Department of Internal Medicine, Chulalongkorn University, Patumwan, Bangkok, Thailand.
Arch Gynecol Obstet. 2009 Dec;280(6):1055-8. doi: 10.1007/s00404-009-1057-5. Epub 2009 Apr 2.
Pheochromocytoma manifesting during pregnancy is uncommon but it is responsible for a high maternal and fetal mortality rate, especially when unrecognized. Most cases of pheochromocytoma are sporadic but they can be part of hereditary autosomal dominant syndromes.
We describe a case of bilateral pheochromocytoma in a term-pregnant patient with a previous history of medullary thyroid carcinoma (MTC). Her genetic study revealed a heterozygous mutation, c.1900T>C, in the RET proto-oncogene which confirmed the diagnosis of multiple endocrine neoplasia type 2A (MEN2A). Unrecognized, the tumors caused a crisis with fatal outcome in the mother during the postpartum period. This event might have been prevented if the tumor had been detected previously.
MEN2A affected pregnancy is an unusual condition. This syndrome should be suspected when a pregnant patient has a history of MTC. Early detection and appropriate management can prevent serious maternal and fetal complications. We also reviewed the literature of MEN2A-affected pregnancies.
妊娠期间表现出的嗜铬细胞瘤并不常见，但它会导致很高的母亲和胎儿死亡率，尤其是在未被识别的情况下。大多数嗜铬细胞瘤是散发性的，但它们也可能是常染色体显性遗传综合征的一部分。
我们描述了一例足月妊娠患者双侧嗜铬细胞瘤的病例，该患者曾患有甲状腺髓样癌（MTC）。她的基因研究显示 RET 原癌基因 c.1900T>C 杂合突变，这证实了多发性内分泌肿瘤 2A 型（MEN2A）的诊断。如果之前发现肿瘤，未被识别的肿瘤可能会导致母亲在产后期间发生危机，导致致命后果。
MEN2A 影响妊娠是一种不常见的情况。当妊娠患者有 MTC 病史时，应怀疑该综合征。早期检测和适当的管理可以预防严重的母婴并发症。我们还回顾了 MEN2A 影响妊娠的文献。
